Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.

Hartmann, H; Herchenbach, J; Stephani, U; Ledaal, P; Donnerstag, F; Lücke, T; Das, A M; Christen, H J; Hagedorn, M; Meins, M

Hartmann, H; Herchenbach, J; Stephani, U; Ledaal, P; Donnerstag, F; Lücke, T; Das, A M; Christen, H J; Hagedorn, M; Meins, M.

Affiliation

Hartmann H; 1Department of Paediatrics, Hannover Medical School, Hannover, Germany. hartmann.hans@mh-hannover.de

Neuropediatrics ; 38(3): 143-7, 2007 Jun.

Article in En | MEDLINE | ID: mdl-17985264

Subject(s)

Alexander Disease/genetics; Exons/genetics; Glial Fibrillary Acidic Protein/genetics; Mutation/genetics; Age of Onset; Alanine/genetics; Alexander Disease/pathology; Cysteine/genetics; DNA Mutational Analysis/methods; Female; Frontal Lobe/pathology; Humans; Infant; Magnetic Resonance Imaging/methods; Male; Protein Structure, Tertiary/genetics; Tyrosine/genetics; Valine/genetics

Search on Google

Add to My VHL

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Exons / Alexander Disease / Glial Fibrillary Acidic Protein / Mutation Type of study: Risk_factors_studies Limits: Female / Humans / Infant / Male Language: En Journal: Neuropediatrics Year: 2007 Document type: Article Affiliation country: Germany

Search on Google

Add to My VHL

XML

PubMed Links